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Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero
  1. Johannes Mofors1,
  2. Håkan Eliasson2,
  3. Aurelie Ambrosi1,
  4. Stina Salomonsson1,
  5. Amanda Skog1,
  6. Michael Fored1,
  7. Anders Ekbom1,
  8. Gunnar Bergman2,
  9. Sven-Erik Sonesson2,
  10. Marie Wahren-Herlenius1
  1. 1 Department of Medicine, Karolinska Institutet, Stockholm, Sweden
  2. 2 Department of Women’s and Children’s Health, Karolinska Universitetssjukhuset, Stockholm, Sweden
  1. Correspondence to Professor Marie Wahren-Herlenius, Department of Medicine, Karolinska Institutet, Stockholm 17176, Sweden; marie.wahren{at}


Objective Congenital heart block (CHB) may develop in fetuses of Ro/SSA autoantibody-positive women. Given the rarity of CHB, information on comorbidity and complications later in life is difficult to systematically collect for large groups of patients. We therefore used nation-wide healthcare registers to investigate comorbidity and outcomes in patients with CHB and their siblings.

Methods Data from patients with CHB (n= 119) and their siblings (n= 128), all born to anti-Ro/SSA-positive mothers, and from matched healthy controls (n= 1,190) and their siblings (n= 1,071), were retrieved from the Swedish National Patient Register. Analyses were performed by Cox proportional hazard modelling.

Results Individuals with CHB had a significantly increased risk of cardiovascular comorbidity, with cardiomyopathy and/or heart failure observed in 20 (16.8%) patients versus 3 (0.3%) controls, yielding a HR of 70.0 (95% CI 20.8 to 235.4), and with a HR for cerebral infarction of 39.9 (95% CI 4.5 to 357.3). Patients with CHB also had a higher risk of infections. Pacemaker treatment was associated with a decreased risk of cerebral infarction but increased risks of cardiomyopathy/heart failure and infection. The risk of systemic connective tissue disorder was also increased in patients with CHB (HR 11.8, 95% CI 4.0 to 11.8), and both patients with CHB and their siblings had an increased risk to develop any of 15 common autoimmune conditions (HR 5.7, 95% CI 2.83 to 11.69 and 3.6, 95% CI 1.7 to 8.0, respectively).

Conclusions The data indicate an increased risk of several cardiovascular, infectious and autoimmune diseases in patients with CHB, with the latter risk shared by their siblings.

  • congenital heart block
  • pacemaker
  • sle
  • sjögren’s syndrome

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  • Handling editor Josef S Smolen

  • Contributors JM, SS and MWH conceived the study, with support from MF and AE for the study design. HE, GB, SES recruited patients and recorded clinical data. ASA and MWH extracted register data. JM analyzed the data with input from HE, GB, SES and MWH. JM wrote the first version of the manuscript with input from HE, AA, GB, SES and MWH, and all authors participated in the editing until its final version.

  • Funding The study was supported by grants from the Swedish Research Council, the Swedish Rheumatism association, the King Gustaf the V:th 80-year foundation, the Heart-Lung Foundation, the Freemason’s in Stockholm Foundation for Children’s Welfare, the Stockholm County Council, the Karolinska Institute, and the Torsten and Ragnar Söderberg Foundation.

  • Competing interests None declared.

  • Patient consent Not required.

  • Ethics approval The study was approved by the Regional Ethics Committee in Stockholm, and patients or guardians gave written informed consent.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement The ethical permit granted for this study does not allow for sharing to a third party.